Article
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Journal of inherited metabolic disease - 1 Dec 2008
Keeratichamroen S, Cairns J R Ketudat, Wattanasirichaigoon D, Wasant P, Ngiwsara L, Suwannarat P, Pangkanon S, Kuptanon J, Tanpaiboon P, Rujirawat T, Liammongkolkul S, Svasti J
Abstract excerpt
Molecular defects in the gene encoding the enzyme iduronate-2-sulfatase (IDS) result in Hunter disease (mucopolysaccharidosis type II, MPS II). To determine the molecular basis of MPS II in Thailand, the IDS gene was analysed in 20 Thai patients with Hunter syndrome from 18 unrelated families. A total of 19 different mutations, including 9 missense mutations, 3 nonsense mutations, 3 splice site alterations, 1...
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